Incidental Mutation 'R5939:Man1c1'
ID |
462420 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Man1c1
|
Ensembl Gene |
ENSMUSG00000037306 |
Gene Name |
mannosidase, alpha, class 1C, member 1 |
Synonyms |
|
MMRRC Submission |
043243-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.227)
|
Stock # |
R5939 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
134289001-134431601 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 134293147 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Methionine
at position 543
(V543M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000050979
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038628]
[ENSMUST00000054096]
|
AlphaFold |
Q6NXK9 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000038628
AA Change: V543M
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000037949 Gene: ENSMUSG00000037306 AA Change: V543M
Domain | Start | End | E-Value | Type |
transmembrane domain
|
23 |
45 |
N/A |
INTRINSIC |
low complexity region
|
80 |
91 |
N/A |
INTRINSIC |
Pfam:Glyco_hydro_47
|
176 |
612 |
9.9e-147 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000054096
AA Change: V543M
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000050979 Gene: ENSMUSG00000037306 AA Change: V543M
Domain | Start | End | E-Value | Type |
transmembrane domain
|
23 |
45 |
N/A |
INTRINSIC |
low complexity region
|
80 |
91 |
N/A |
INTRINSIC |
Pfam:Glyco_hydro_47
|
176 |
612 |
1.1e-147 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176606
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000185007
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 93.9%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam32 |
A |
T |
8: 25,404,138 (GRCm39) |
F225I |
probably damaging |
Het |
Ager |
G |
T |
17: 34,817,175 (GRCm39) |
C38F |
probably damaging |
Het |
Arel1 |
C |
A |
12: 84,973,066 (GRCm39) |
R577L |
probably damaging |
Het |
Armh1 |
T |
C |
4: 117,087,119 (GRCm39) |
Y182C |
probably damaging |
Het |
Cabp2 |
G |
T |
19: 4,136,470 (GRCm39) |
C172F |
possibly damaging |
Het |
Cenps |
C |
A |
4: 149,214,658 (GRCm39) |
|
probably benign |
Het |
D630045J12Rik |
A |
C |
6: 38,171,904 (GRCm39) |
S755A |
possibly damaging |
Het |
Duox1 |
A |
T |
2: 122,176,832 (GRCm39) |
H1451L |
probably damaging |
Het |
Dync2h1 |
A |
G |
9: 7,037,801 (GRCm39) |
V3359A |
probably damaging |
Het |
Erlin2 |
T |
C |
8: 27,526,554 (GRCm39) |
F305L |
probably benign |
Het |
Gm10428 |
A |
C |
11: 62,644,288 (GRCm39) |
|
probably benign |
Het |
Gnal |
G |
A |
18: 67,324,456 (GRCm39) |
V204M |
probably damaging |
Het |
Intu |
T |
C |
3: 40,647,014 (GRCm39) |
V629A |
probably damaging |
Het |
Lrguk |
G |
T |
6: 34,055,688 (GRCm39) |
C435F |
probably damaging |
Het |
Mcm3ap |
A |
G |
10: 76,344,195 (GRCm39) |
H1779R |
probably benign |
Het |
Neb |
T |
C |
2: 52,147,606 (GRCm39) |
T2776A |
probably benign |
Het |
Nek10 |
A |
T |
14: 14,931,290 (GRCm38) |
Y754F |
possibly damaging |
Het |
Nr3c1 |
A |
G |
18: 39,553,706 (GRCm39) |
I664T |
probably benign |
Het |
Nrip1 |
T |
C |
16: 76,089,010 (GRCm39) |
E849G |
probably damaging |
Het |
Nrros |
A |
G |
16: 31,962,272 (GRCm39) |
F546L |
probably benign |
Het |
Or12e8 |
A |
C |
2: 87,188,048 (GRCm39) |
I87L |
possibly damaging |
Het |
Or5d39 |
T |
C |
2: 87,979,853 (GRCm39) |
Y170C |
probably damaging |
Het |
Pcdhb16 |
A |
G |
18: 37,611,117 (GRCm39) |
T26A |
probably benign |
Het |
Penk |
A |
G |
4: 4,138,010 (GRCm39) |
F45S |
probably benign |
Het |
Pgap4 |
T |
A |
4: 49,586,412 (GRCm39) |
Q252L |
probably damaging |
Het |
Ppp2r3d |
A |
T |
9: 101,089,824 (GRCm39) |
N166K |
probably benign |
Het |
Psmb1 |
A |
G |
17: 15,718,440 (GRCm39) |
F29L |
probably damaging |
Het |
Rab23 |
T |
C |
1: 33,762,990 (GRCm39) |
V20A |
probably damaging |
Het |
Ryr1 |
C |
T |
7: 28,815,552 (GRCm39) |
A113T |
probably damaging |
Het |
Ryr2 |
C |
T |
13: 11,805,218 (GRCm39) |
R882K |
probably damaging |
Het |
Slc6a6 |
A |
G |
6: 91,731,929 (GRCm39) |
N586S |
probably benign |
Het |
Slc9c1 |
A |
G |
16: 45,368,031 (GRCm39) |
I207V |
probably benign |
Het |
Spef2 |
G |
A |
15: 9,614,301 (GRCm39) |
T1215I |
probably benign |
Het |
Thoc2l |
T |
C |
5: 104,667,073 (GRCm39) |
Y532H |
possibly damaging |
Het |
Tmc7 |
C |
T |
7: 118,144,950 (GRCm39) |
A537T |
probably benign |
Het |
Tmem70 |
T |
C |
1: 16,747,615 (GRCm39) |
V243A |
probably benign |
Het |
Top2b |
T |
C |
14: 16,422,786 (GRCm38) |
Y1408H |
probably damaging |
Het |
Tpcn1 |
A |
T |
5: 120,677,892 (GRCm39) |
F642I |
probably damaging |
Het |
Xirp1 |
T |
G |
9: 119,847,575 (GRCm39) |
D436A |
probably benign |
Het |
|
Other mutations in Man1c1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00835:Man1c1
|
APN |
4 |
134,291,843 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02237:Man1c1
|
APN |
4 |
134,311,609 (GRCm39) |
critical splice donor site |
probably null |
|
R0201:Man1c1
|
UTSW |
4 |
134,367,709 (GRCm39) |
splice site |
probably null |
|
R0390:Man1c1
|
UTSW |
4 |
134,305,626 (GRCm39) |
missense |
probably damaging |
1.00 |
R0526:Man1c1
|
UTSW |
4 |
134,296,379 (GRCm39) |
nonsense |
probably null |
|
R1108:Man1c1
|
UTSW |
4 |
134,291,924 (GRCm39) |
missense |
probably damaging |
1.00 |
R1518:Man1c1
|
UTSW |
4 |
134,308,100 (GRCm39) |
missense |
probably benign |
0.01 |
R1756:Man1c1
|
UTSW |
4 |
134,430,749 (GRCm39) |
missense |
probably damaging |
1.00 |
R1866:Man1c1
|
UTSW |
4 |
134,430,749 (GRCm39) |
missense |
probably damaging |
1.00 |
R1914:Man1c1
|
UTSW |
4 |
134,430,749 (GRCm39) |
missense |
probably damaging |
1.00 |
R1915:Man1c1
|
UTSW |
4 |
134,430,749 (GRCm39) |
missense |
probably damaging |
1.00 |
R2171:Man1c1
|
UTSW |
4 |
134,430,749 (GRCm39) |
missense |
probably damaging |
1.00 |
R2172:Man1c1
|
UTSW |
4 |
134,430,749 (GRCm39) |
missense |
probably damaging |
1.00 |
R2937:Man1c1
|
UTSW |
4 |
134,430,263 (GRCm39) |
missense |
possibly damaging |
0.72 |
R2938:Man1c1
|
UTSW |
4 |
134,430,263 (GRCm39) |
missense |
possibly damaging |
0.72 |
R2971:Man1c1
|
UTSW |
4 |
134,430,749 (GRCm39) |
missense |
probably damaging |
1.00 |
R3806:Man1c1
|
UTSW |
4 |
134,430,662 (GRCm39) |
missense |
probably damaging |
1.00 |
R3977:Man1c1
|
UTSW |
4 |
134,430,749 (GRCm39) |
missense |
probably damaging |
1.00 |
R3979:Man1c1
|
UTSW |
4 |
134,430,749 (GRCm39) |
missense |
probably damaging |
1.00 |
R4037:Man1c1
|
UTSW |
4 |
134,320,650 (GRCm39) |
missense |
probably damaging |
1.00 |
R4065:Man1c1
|
UTSW |
4 |
134,430,749 (GRCm39) |
missense |
probably damaging |
1.00 |
R4066:Man1c1
|
UTSW |
4 |
134,430,749 (GRCm39) |
missense |
probably damaging |
1.00 |
R4067:Man1c1
|
UTSW |
4 |
134,430,749 (GRCm39) |
missense |
probably damaging |
1.00 |
R4209:Man1c1
|
UTSW |
4 |
134,430,749 (GRCm39) |
missense |
probably damaging |
1.00 |
R4210:Man1c1
|
UTSW |
4 |
134,430,749 (GRCm39) |
missense |
probably damaging |
1.00 |
R4211:Man1c1
|
UTSW |
4 |
134,430,749 (GRCm39) |
missense |
probably damaging |
1.00 |
R4290:Man1c1
|
UTSW |
4 |
134,291,096 (GRCm39) |
missense |
probably damaging |
1.00 |
R4431:Man1c1
|
UTSW |
4 |
134,430,329 (GRCm39) |
missense |
probably damaging |
1.00 |
R4694:Man1c1
|
UTSW |
4 |
134,430,500 (GRCm39) |
missense |
probably benign |
0.27 |
R4766:Man1c1
|
UTSW |
4 |
134,430,749 (GRCm39) |
missense |
probably damaging |
1.00 |
R5226:Man1c1
|
UTSW |
4 |
134,305,680 (GRCm39) |
missense |
probably damaging |
1.00 |
R5637:Man1c1
|
UTSW |
4 |
134,318,735 (GRCm39) |
missense |
probably damaging |
1.00 |
R5677:Man1c1
|
UTSW |
4 |
134,296,371 (GRCm39) |
missense |
probably damaging |
1.00 |
R7251:Man1c1
|
UTSW |
4 |
134,308,147 (GRCm39) |
missense |
probably damaging |
1.00 |
R7577:Man1c1
|
UTSW |
4 |
134,291,814 (GRCm39) |
critical splice donor site |
probably null |
|
R8551:Man1c1
|
UTSW |
4 |
134,430,326 (GRCm39) |
nonsense |
probably null |
|
R8745:Man1c1
|
UTSW |
4 |
134,303,295 (GRCm39) |
missense |
probably damaging |
0.96 |
R9116:Man1c1
|
UTSW |
4 |
134,311,705 (GRCm39) |
missense |
possibly damaging |
0.91 |
R9272:Man1c1
|
UTSW |
4 |
134,291,118 (GRCm39) |
missense |
probably damaging |
1.00 |
R9406:Man1c1
|
UTSW |
4 |
134,303,318 (GRCm39) |
missense |
probably damaging |
1.00 |
X0019:Man1c1
|
UTSW |
4 |
134,303,318 (GRCm39) |
missense |
probably damaging |
1.00 |
X0062:Man1c1
|
UTSW |
4 |
134,430,683 (GRCm39) |
missense |
possibly damaging |
0.74 |
X0063:Man1c1
|
UTSW |
4 |
134,303,288 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- AGCACTACCCTAGTCTTCTCCA -3'
(R):5'- CACAGACACCAAGCTGGG -3'
Sequencing Primer
(F):5'- AGCTCCCTGCCATGATGATAATGG -3'
(R):5'- ACCAAGCTGGGGCCTGAG -3'
|
Posted On |
2017-02-28 |